{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499229696",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NP_000203.2:p.Cys549Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA400030189",
          "hgvs": "NM_000212.3:c.1645T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400030198",
          "hgvs": "NM_000212.3:c.1646G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146761"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983920[alleleid]",
        "alleleId": 983920,
        "preferredName": "NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996174",
        "RCV": [
          "RCV001290468"
        ],
        "variationId": 996174
      }
    ]
  },
  "type": "amino-acid"
}